THIOT
MCID: THR113
MIFTS: 19

Thiourea Tasting (THIOT)

Categories: Genetic diseases, Smell/Taste diseases

Aliases & Classifications for Thiourea Tasting

MalaCards integrated aliases for Thiourea Tasting:

Name: Thiourea Tasting 57 29
Phenylthiocarbamide Tasting 57 6
Thiot 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
possibly two loci involved


HPO:

31
thiourea tasting:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 171200
MedGen 41 C1868397
SNOMED-CT via HPO 68 263681008 362969004

Summaries for Thiourea Tasting

OMIM® : 57 The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; 604791), which contains at least 25 functional genes (Kim et al., 2005). Humans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. Kim and Drayna (2004) provided an historical review of the subject. Propylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste (Bartoshuk et al., 1994; Drewnowski and Rock, 1995). (171200) (Updated 20-May-2021)

MalaCards based summary : Thiourea Tasting, also known as phenylthiocarbamide tasting, is related to alcohol dependence and alcohol use disorder. An important gene associated with Thiourea Tasting is TAS2R38 (Taste 2 Receptor Member 38). Affiliated tissues include tongue, and related phenotype is abnormality of the endocrine system.

Related Diseases for Thiourea Tasting

Diseases related to Thiourea Tasting via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alcohol dependence 10.1
2 alcohol use disorder 10.1

Symptoms & Phenotypes for Thiourea Tasting

Human phenotypes related to Thiourea Tasting:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the endocrine system 31 HP:0000818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine:
relationship between ptc nontasting to cretinism

Misc:
variation in ability to taste ptc

Clinical features from OMIM®:

171200 (Updated 20-May-2021)

Drugs & Therapeutics for Thiourea Tasting

Search Clinical Trials , NIH Clinical Center for Thiourea Tasting

Genetic Tests for Thiourea Tasting

Genetic tests related to Thiourea Tasting:

# Genetic test Affiliating Genes
1 Thiourea Tasting 29

Anatomical Context for Thiourea Tasting

MalaCards organs/tissues related to Thiourea Tasting:

40
Tongue

Publications for Thiourea Tasting

Articles related to Thiourea Tasting:

(show all 35)
# Title Authors PMID Year
1
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. 57 6
12595690 2003
2
Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci. 57
16086309 2005
3
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. 57
14997422 2004
4
Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p. 57
12624758 2003
5
A family of candidate taste receptors in human and mouse. 57
10766242 2000
6
A plethora of taste receptors. 57
10774719 2000
7
Localization of a gene for bitter-taste perception to human chromosome 5p15. 57
10205283 1999
8
6-n-Propylthiouracil: a genetic marker for taste, with implications for food preference and dietary habits. 57
9792854 1998
9
The influence of genetic taste markers on food acceptance. 57
7661111 1995
10
PTC/PROP tasting: anatomy, psychophysics, and sex effects. 57
7878086 1994
11
Fitting mixture distributions to phenylthiocarbamide (PTC) sensitivity. 57
1985453 1991
12
Phenylthiocarbamide taste sensitivity revisited: complete sorting test supports residual family resemblance. 57
2753351 1989
13
Alternative genetic models for the inheritance of the phenylthiocarbamide taste deficiency. 57
2753352 1989
14
Genes for salivary proline-rich proteins and taste for phenylthiourea are not closely linked in humans. 57
2907874 1988
15
Estimating the recombination frequency for the PTC-Kell linkage. 57
6745938 1984
16
Possible linkages (lod score over 1.5) and a tentative map of the Jk-Km linkage group. 57
752492 1978
17
Residual family resemblance for PTC taste sensitivity. 57
852875 1977
18
Divergent taste responsiveness to fruit of the tree Antidesma bunius. 57
834304 1977
19
PTC testing of infants. 57
962321 1976
20
Linkage relations of the loci for Kell and phenylthiocarbamide taste sensitivity. 57
976995 1976
21
Linkage relationships between 22 autosomal markers. 57
4467782 1974
22
Linkage relations of the phenylthiocarbamide locus (PTC). 57
4435792 1974
23
PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE. 57
16695869 1961
24
Improvements in the classification of the taster genotypes. 57
13534207 1958
25
Taste blindness to phenyl-thio-carbamide as a function of saliva. 57
15391358 1949
26
The measurement of taste sensitivity to phenylthiourea. 57
15403125 1949
27
Spearmint Extract Containing Rosmarinic Acid Suppresses Amyloid Fibril Formation of Proteins Associated with Dementia. 61
33202830 2020
28
Enhanced Stability of DNA Nanostructures by Incorporation of Unnatural Base Pairs. 61
28856771 2017
29
Site-specific modification of the 6-amino group of adenosine in RNA by an interstrand functionality-transfer reaction with an s-functionalized 4-thiothymidine. 61
25940822 2015
30
Adenosine triphosphate (ATP) reduces amyloid-β protein misfolding in vitro. 61
24625803 2014
31
Biophysical properties and cellular toxicity of covalent crosslinked oligomers of α-synuclein formed by photoinduced side-chain tyrosyl radicals. 61
22771470 2012
32
Responsiveness to 6-n-propylthiouracil (PROP) is associated with salivary levels of two specific basic proline-rich proteins in humans. 61
22312435 2012
33
Enhanced base pairing and replication efficiency of thiothymidines, expanded-size variants of thymidine. 61
16402811 2006
34
The use of thymidine analogs to improve the replication of an extra DNA base pair: a synthetic biological system. 61
16192575 2005
35
Site-specific photo-cross-linking between lambda integrase and its DNA recombination target. 61
11827961 2002

Variations for Thiourea Tasting

ClinVar genetic disease variations for Thiourea Tasting:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAS2R38 NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro) SNV drug response 2904 rs713598 GRCh37: 7:141673345-141673345
GRCh38: 7:141973545-141973545
2 TAS2R38 NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val) SNV drug response 2906 rs10246939 GRCh37: 7:141672604-141672604
GRCh38: 7:141972804-141972804
3 TAS2R38 NM_176817.5(TAS2R38):c.785= (p.Ala262=) SNV drug response 2905 rs1726866 GRCh37: 7:141672705-141672705
GRCh38: 7:141972905-141972905

Expression for Thiourea Tasting

Search GEO for disease gene expression data for Thiourea Tasting.

Pathways for Thiourea Tasting

GO Terms for Thiourea Tasting

Sources for Thiourea Tasting

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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